Abstract:
:Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the BSCL2 gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Luigetti M,Fabrizi GM,Madia F,Ferrarini M,Conte A,Delgrande A,Tonali PA,Sabatelli Mdoi
10.1002/mus.21734subject
Has Abstractpub_date
2010-09-01 00:00:00pages
448-51issue
3eissn
0148-639Xissn
1097-4598journal_volume
42pub_type
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